Dataset Information

Association of genetic polymorphisms CYP2A62 rs1801272 and CYP2A69 rs28399433 with tobacco-induced lung Cancer: case-control study in an Egyptian population.

ABSTRACT: BACKGROUND:Several studies have reported the role of CYP2A6 genetic polymorphisms in smoking and lung cancer risk with some contradictory results in different populations. The purpose of the current study is to assess the contribution of the CYP2A6*2 rs1801272 and CYP2A6*9 rs28399433 gene polymorphisms and tobacco smoking in the risk of lung cancer in an Egyptian population. METHODS:A case-control study was conducted on 150 lung cancer cases and 150 controls. All subjects were subjected to blood sampling for Extraction of genomic DNA and Genotyping of the CYP2A6 gene SNPs (CYP2A6*2 (1799 T?>?A) rs1801272 and CYP2A6*9 (-?48 T?>?G) rs28399433 by Real time PCR. RESULTS:AC and CC genotypes were detected in CYP2A6*9; and AT genotype in CYP2A6*2. The frequency of CYP2A6*2 and CYP2A6*9 were 0.7% and 3.7% respectively in the studied Egyptian population. All cancer cases with slow metabolizer variants were NSCLC. Non-smokers represented 71.4% of the CYP2A6 variants. There was no statistical significant association between risk of lung cancer, smoking habits, heaviness of smoking and the different polymorphisms of CYP2A6 genotypes. CONCLUSION:The frequency of slow metabolizers CYP2A6*2 and CYP2A6*9 are poor in the studied Egyptian population. Our findings did not suggest any association between CYP2A6 genotypes and risk of lung cancer.

SUBMITTER: Ezzeldin N

PROVIDER: S-EPMC5934827 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature

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Association of genetic polymorphisms CYP2A62 rs1801272 and CYP2A69 rs28399433 with tobacco-induced lung Cancer: case-control study in an Egyptian population.

Ezzeldin Nada N El-Lebedy Dalia D Darwish Amira A El Bastawisy Ahmed A Abd Elaziz Shereen Hamdy SH Hassan Mirhane Mohamed MM Saad-Hussein Amal A

BMC cancer 20180503 1

<h4>Background</h4>Several studies have reported the role of CYP2A6 genetic polymorphisms in smoking and lung cancer risk with some contradictory results in different populations. The purpose of the current study is to assess the contribution of the CYP2A6*2 rs1801272 and CYP2A6*9 rs28399433 gene polymorphisms and tobacco smoking in the risk of lung cancer in an Egyptian population.<h4>Methods</h4>A case-control study was conducted on 150 lung cancer cases and 150 controls. All subjects were sub ...[more]

PMID: 29724170

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Project description:BACKGROUND: Myeloproliferative neoplasms (MPNs) are a group of haematological malignancies that can be characterised by a somatic mutation (JAK2V617F). This mutation causes the bone marrow to produce excessive blood cells and is found in polycythaemia vera (~95%), essential thrombocythaemia and primary myelofibrosis (both ~50%). It is considered as a major genetic factor contributing to the development of these MPNs. No genetic association study of MPN in the Hong Kong population has so far been reported. Here, we investigated the relationship between germline JAK2 polymorphisms and MPNs in Hong Kong Chinese to find causal variants that contribute to MPN development. We analysed 19 tag single nucleotide polymorphisms (SNPs) within the JAK2 locus in 172 MPN patients and 470 healthy controls. Three of these 19 SNPs defined the reported JAK2 46/1 haplotype: rs10974944, rs12343867 and rs12340895. Allele and haplotype frequencies were compared between patients and controls by logistic regression adjusted for sex and age. Permutation test was used to correct for multiple comparisons. With significant findings from the 19 SNPs, we then examined 76 additional SNPs across the 148.7-kb region of JAK2 via imputation with the SNP data from the 1000 Genomes Project. RESULTS: In single-marker analysis, 15 SNPs showed association with JAK2V617F-positive MPNs (n?=?128), and 8 of these were novel MPN-associated SNPs not previously reported. Exhaustive variable-sized sliding-window haplotype analysis identified 184 haplotypes showing significant differences (P?<?0.05) in frequencies between patients and controls even after multiple-testing correction. However, single-marker alleles exhibited the strongest association with V617F-positive MPNs. In local Hong Kong Chinese, rs12342421 showed the strongest association signal: asymptotic P?=?3.76?×?10-15, empirical P?=?2.00?×?10-5 for 50,000 permutations, OR?=?3.55 for the minor allele C, and 95% CI, 2.59-4.87. Conditional logistic regression also signified an independent effect of rs12342421 in significant haplotype windows, and this independent effect remained unchanged even with the imputation of additional 76 SNPs. No significant association was found between V617F-negative MPNs and JAK2 SNPs. CONCLUSION: With a large sample size, we reported the association between JAK2V617F-positive MPNs and 15 tag JAK2 SNPs and the association of rs12342421 being independent of the JAK2 46/1 haplotype in Hong Kong Chinese population.

Dataset Information

Association of genetic polymorphisms CYP2A62 rs1801272 and CYP2A69 rs28399433 with tobacco-induced lung Cancer: case-control study in an Egyptian population.

Publications

Association of genetic polymorphisms CYP2A62 rs1801272 and CYP2A69 rs28399433 with tobacco-induced lung Cancer: case-control study in an Egyptian population.

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Dataset Information

Association of genetic polymorphisms CYP2A6*2 rs1801272 and CYP2A6*9 rs28399433 with tobacco-induced lung Cancer: case-control study in an Egyptian population.

Publications

Association of genetic polymorphisms CYP2A6*2 rs1801272 and CYP2A6*9 rs28399433 with tobacco-induced lung Cancer: case-control study in an Egyptian population.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets

Association of genetic polymorphisms CYP2A62 rs1801272 and CYP2A69 rs28399433 with tobacco-induced lung Cancer: case-control study in an Egyptian population.

Association of genetic polymorphisms CYP2A62 rs1801272 and CYP2A69 rs28399433 with tobacco-induced lung Cancer: case-control study in an Egyptian population.